Variant report

Variant	rs7064672
Chromosome Location	chrX:31218515-31218516
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1317642	0.81[ASW][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap]
rs2293666	0.83[CHD][hapmap];0.82[JPT][hapmap]
rs2293667	0.83[CHD][hapmap];0.82[JPT][hapmap]
rs2293668	0.83[CHD][hapmap];0.82[JPT][hapmap]
rs5927704	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530449	chrX:30962926-31375215	Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv869389	chrX:31207964-31963300	Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv481896	chrX:31212683-31546984	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3407256	chrX:31214281-31548379	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:31140200-31227600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chrX:31142000-31236600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chrX:31156800-31224800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chrX:31182000-31227000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chrX:31196600-31227600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chrX:31197800-31219400	Weak transcription	Adipose Nuclei	Adipose
7	chrX:31201000-31218600	Weak transcription	Left Ventricle	heart
8	chrX:31204400-31231600	Weak transcription	Colon Smooth Muscle	Colon
9	chrX:31205600-31231200	Weak transcription	HSMMtube	muscle
10	chrX:31206800-31219600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chrX:31206800-31227000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chrX:31208800-31226800	Weak transcription	NH-A	brain
13	chrX:31209800-31219200	Weak transcription	Ovary	ovary
14	chrX:31212600-31231600	Weak transcription	Stomach Smooth Muscle	stomach
15	chrX:31213800-31221000	Weak transcription	Gastric	stomach
16	chrX:31214200-31240600	Weak transcription	Brain Angular Gyrus	brain
17	chrX:31215200-31250400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chrX:31215400-31219200	Weak transcription	Pancreas	Pancrea
19	chrX:31215600-31231400	Weak transcription	Fetal Muscle Leg	muscle
20	chrX:31215800-31222200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chrX:31215800-31222800	Weak transcription	Brain Anterior Caudate	brain
22	chrX:31216000-31227200	Weak transcription	HMEC	breast
23	chrX:31216000-31248200	Weak transcription	Psoas Muscle	Psoas
24	chrX:31216600-31218600	Enhancers	Hela-S3	cervix
25	chrX:31216600-31235400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chrX:31217200-31218600	Enhancers	HepG2	liver
27	chrX:31217200-31219400	Weak transcription	Liver	Liver
28	chrX:31217400-31219000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chrX:31217400-31221000	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chrX:31217600-31218600	Enhancers	Fetal Intestine Large	intestine
31	chrX:31217600-31218600	Enhancers	Fetal Intestine Small	intestine
32	chrX:31217800-31219000	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chrX:31217800-31219000	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chrX:31217800-31226800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chrX:31218000-31227600	Weak transcription	Muscle Satellite Cultured Cells	--
36	chrX:31218000-31231400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chrX:31218200-31219600	Weak transcription	HUVEC	blood vessel
38	chrX:31218200-31219800	Weak transcription	Fetal Heart	heart
39	chrX:31218200-31225600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chrX:31218200-31228600	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chrX:31218200-31231600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chrX:31218400-31218600	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chrX:31218400-31219400	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chrX:31218400-31219400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chrX:31218400-31238200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chrX:31218400-31250200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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